ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.647A>C (p.Gln216Pro) rs144950303 0.00005
NM_130839.5(UBE3A):c.1006A>C (p.Met336Leu) rs372526793 0.00004
NM_130839.5(UBE3A):c.1289G>T (p.Gly430Val) rs1260300451 0.00003
NM_130839.5(UBE3A):c.2355G>A (p.Arg785=) rs587783103 0.00003
NM_130839.5(UBE3A):c.295G>T (p.Gly99Cys) rs774533700 0.00003
NM_130839.5(UBE3A):c.305A>G (p.Asn102Ser) rs201577750 0.00003
NM_130839.5(UBE3A):c.46A>G (p.Ile16Val) rs777538399 0.00003
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser) rs916720140 0.00002
NM_130839.5(UBE3A):c.511A>T (p.Thr171Ser) rs140245963 0.00002
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile) rs751838524 0.00001
NM_130839.5(UBE3A):c.1165C>A (p.His389Asn) rs928551764 0.00001
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp) rs587784510 0.00001
NM_130839.5(UBE3A):c.1305T>A (p.Asp435Glu) rs587783102 0.00001
NM_130839.5(UBE3A):c.1310G>A (p.Arg437Gln) rs765813410 0.00001
NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg) rs1384754256 0.00001
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys) rs587783098 0.00001
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) rs747626553 0.00001
NM_130839.5(UBE3A):c.2400A>T (p.Arg800Ser) rs1446392769 0.00001
NM_130839.5(UBE3A):c.2402T>A (p.Leu801His) rs1057520393 0.00001
NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met) rs587783148 0.00001
NM_130839.5(UBE3A):c.290C>T (p.Ser97Leu) rs772110423 0.00001
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys) rs753429030 0.00001
NM_130839.5(UBE3A):c.457G>A (p.Val153Ile) rs199636913 0.00001
NM_130839.5(UBE3A):c.493C>T (p.Arg165Trp) rs1085307791 0.00001
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser) rs1383474985 0.00001
NM_130839.5(UBE3A):c.63-5T>G rs587783144 0.00001
NM_130839.5(UBE3A):c.650G>C (p.Gly217Ala) rs777672019 0.00001
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) rs587782922 0.00001
NM_130839.5(UBE3A):c.806C>T (p.Thr269Met) rs1459066021 0.00001
NM_130839.5(UBE3A):c.1040A>C (p.Lys347Thr)
NM_130839.5(UBE3A):c.1059T>G (p.Phe353Leu) rs768524039
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly) rs1219606975
NM_130839.5(UBE3A):c.1153G>T (p.Val385Leu) rs763388142
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu) rs143000400
NM_130839.5(UBE3A):c.1192A>G (p.Ile398Val) rs200380619
NM_130839.5(UBE3A):c.1204A>C (p.Ser402Arg)
NM_130839.5(UBE3A):c.1207G>A (p.Glu403Lys) rs1555400239
NM_130839.5(UBE3A):c.1277A>C (p.Glu426Ala) rs2152820840
NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys) rs1555403204
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu) rs2152820660
NM_130839.5(UBE3A):c.140C>T (p.Thr47Met)
NM_130839.5(UBE3A):c.1415T>A (p.Phe472Tyr)
NM_130839.5(UBE3A):c.1421T>C (p.Phe474Ser)
NM_130839.5(UBE3A):c.1474T>C (p.Tyr492His) rs2152820213
NM_130839.5(UBE3A):c.1583A>G (p.His528Arg)
NM_130839.5(UBE3A):c.1606C>T (p.Arg536Trp) rs1385940029
NM_130839.5(UBE3A):c.1609-11T>C rs1555393315
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr) rs1301123423
NM_130839.5(UBE3A):c.1621G>A (p.Ala541Thr) rs755392575
NM_130839.5(UBE3A):c.1673G>A (p.Gly558Glu)
NM_130839.5(UBE3A):c.1704C>T (p.Ser568=) rs1177834519
NM_130839.5(UBE3A):c.1708G>C (p.Glu570Gln) rs2152730028
NM_130839.5(UBE3A):c.1906A>G (p.Arg636Gly)
NM_130839.5(UBE3A):c.1933T>G (p.Phe645Val) rs398124439
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His) rs374601913
NM_130839.5(UBE3A):c.1972A>C (p.Ser658Arg) rs2152694134
NM_130839.5(UBE3A):c.20+402A>G
NM_130839.5(UBE3A):c.2035A>G (p.Ile679Val)
NM_130839.5(UBE3A):c.211G>A (p.Glu71Lys) rs1207660411
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del) rs2076968392
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser) rs1566887391
NM_130839.5(UBE3A):c.2340C>G (p.Asp780Glu)
NM_130839.5(UBE3A):c.2357A>C (p.Glu786Ala) rs2152515522
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.242A>G (p.Asp81Gly)
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr) rs1452134414
NM_130839.5(UBE3A):c.248A>G (p.His83Arg) rs2152848042
NM_130839.5(UBE3A):c.2503C>T (p.Pro835Ser) rs1555379920
NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg)
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe) rs587783097
NM_130839.5(UBE3A):c.2589C>A (p.Ile863=) rs1414220524
NM_130839.5(UBE3A):c.283G>C (p.Glu95Gln)
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp) rs2081069977
NM_130839.5(UBE3A):c.340G>A (p.Gly114Ser)
NM_130839.5(UBE3A):c.357T>G (p.Phe119Leu) rs2152847522
NM_130839.5(UBE3A):c.362A>G (p.Asp121Gly)
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala) rs1211073576
NM_130839.5(UBE3A):c.400C>T (p.Leu134Phe) rs566793027
NM_130839.5(UBE3A):c.419G>A (p.Arg140Lys)
NM_130839.5(UBE3A):c.422A>G (p.Glu141Gly)
NM_130839.5(UBE3A):c.570G>T (p.Lys190Asn) rs780715298
NM_130839.5(UBE3A):c.587C>T (p.Ser196Phe) rs2152823217
NM_130839.5(UBE3A):c.654CAA[1] (p.Asn220del) rs763097042
NM_130839.5(UBE3A):c.676C>T (p.Pro226Ser) rs2152822794
NM_130839.5(UBE3A):c.677C>G (p.Pro226Arg)
NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala)
NM_130839.5(UBE3A):c.744A>T (p.Lys248Asn) rs367996463
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile) rs1064794579
NM_130839.5(UBE3A):c.901A>G (p.Met301Val) rs587783147
NM_130839.5(UBE3A):c.91G>A (p.Glu31Lys) rs2152848642
NM_130839.5(UBE3A):c.940C>A (p.Pro314Thr)
NM_130839.5(UBE3A):c.943C>T (p.Leu315Phe) rs2152822041
NM_130839.5(UBE3A):c.988_989delinsTT (p.Ala330Leu) rs2152821892

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.